rs80356890
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;G) | 6 | BRCA1 variant considered pathogenic for breast cancer |
Make rs80356890(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43067629 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs80356890 |
dbSNP (classic) | rs80356890 |
ClinGen | rs80356890 |
ebi | rs80356890 |
HLI | rs80356890 |
Exac | rs80356890 |
Gnomad | rs80356890 |
Varsome | rs80356890 |
LitVar | rs80356890 |
Map | rs80356890 |
PheGenI | rs80356890 |
Biobank | rs80356890 |
1000 genomes | rs80356890 |
hgdp | rs80356890 |
ensembl | rs80356890 |
geneview | rs80356890 |
scholar | rs80356890 |
rs80356890 | |
pharmgkb | rs80356890 |
gwascentral | rs80356890 |
openSNP | rs80356890 |
23andMe | rs80356890 |
SNPshot | rs80356890 |
SNPdbe | rs80356890 |
MSV3d | rs80356890 |
GWAS Ctlg | rs80356890 |
Max Magnitude | 6 |
23andMe name: i5010089
ClinVar | |
---|---|
Risk | rs80356890(G;G) |
Alt | rs80356890(G;G) |
Reference | Rs80356890(A;A) |
Significance | Pathogenic |
Disease | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided |
Variation | info |
Gene | BRCA1 |
CLNDBN | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome not provided |
Reversed | 1 |
HGVS | NC_000017.10:g.41219646T>C |
CLNSRC | Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation UniProtKB (protein) |
CLNACC | RCV000048749.5, RCV000112475.2, RCV000163024.1, RCV000212192.1, |